Sarah A. Tishkoff
教授
Department of Genetics
Perelman School of Medicine, University of Pennsylvania;Center for Genes and Complex Traits, University of Pennsylvania;Penn Genome Frontiers Institute, University of Pennsylvania;Institute for Immunology, University of Pennsylvania;Center of Excellence in Environmental Toxicology, University of Pennsylvania;Institute for Diabetes, Obesity, and Metabolism, University of Pennsylvania;Diabetes and Endocrinology Research Center, University of Pennsylvania;Department of Biology, School of Arts and Sciences, University of Pennsylvania;Population Aging Research Center, University of Pennsylvania;Skin Disease Research Center, University of Pennsylvania;Center for Global Genomics and Health Equity, University of Pennsyvania
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We combine field work, laboratory work, and computational approaches to address fundamental questions about modern human evolutionary history and the genetic architecture of traits related to adaptation and disease risk in Africa. We are using an integrative genomics approach, incorporating genomic, proteomic, epigenetic, transcriptomic, metabolomic, and microbiome data obtained from ethnically diverse Africans living in distinct environments to identify genetic and environmental factors that play a role in a number of anthropometric, metabolomic, cardiovascular, and immune related traits. Many of these traits are likely to play a role in adaptation and some may play a role in disease susceptibility. We are characterizing gene and transcription networks to study how naturally occurring genetic and structural variation perturbs them. We are also studying how these networks are impacted by variable environmental factors such as lifestyle, diet, drug response, and infectious disease exposure. Additionally, we are examining patterns of genetic variation at the genome level among modern humans and non-human primates in order to elucidate the evolutionary forces (mutation, gene conversion/recombination, migration, drift, selection) that shape and maintain genetic variation in contemporary populations. These data are being used to reconstruct historical demographic and population differentiation events (including population expansion and contraction, subdivision, and migration) and to test hypotheses of modern human origins, including the possibility of introgression of archaic and modern human genomes.
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Current biology : CBno. 22 (2023): 4905-4916.e5
biorxiv(2021)
Research square (2021)
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